Systematic detection of mosaicism by using digital NGS reveals three new MEN1 mosaicisms von Lagarde, Arnaud, Mougel, Grégory, Coppin, Lucie, Haissaguerre, Magalie, Le Collen, Lauriane, Mohamed, Amira, Klein, Marc, Odou, Marie-Françoise, Tabarin, Antoine, Brixi, Hedia, Cuny, Thomas, Delemer, Brigitte, Barlier, Anne, Romanet, Pauline

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Early Detection of Relapse by ctDNA Sequencing in a Patient with Metastatic Thymic Tumor and MEN1 Mosaicism von Lagarde, Arnaud, Collen, Lauriane Le, Boulagnon, Camille, Brixi, Hedia, Durlach, Anne, Mougel, Gregory, Cuny, Thomas, Delemer, Brigitte, Barlier, Anne, Romanet, Pauline

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Health-related quality of life, social and psychological well-being of 109 adult patients with genetic lipodystrophy von Mosbah, Héléna, Vatier, Camille, Andriss, Béatrice, Belalem, Inès, Delemer, Brigitte, Janmaat, Sonja, Bouhnik, Anne-Deborah, Le Collen, Lauriane, Maiter, Dominique, Nobécourt, Estelle, Vantyghem, Marie-Christine, Vigouroux, Corinne, Dumas, Agnes

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Dominant PDX1 deficiency causes highly penetrant diabetes at different ages, associated with obesity and exocrine pancreatic deficiency: Lessons for precision medicine von Kouidrat, Youssef, Le Collen, Lauriane, Vaxillaire, Martine, Dechaume, Aurélie, Toussaint, Bénédicte, Vaillant, Emmanuel, Amanzougarene, Souhila, Derhourhi, Mehdi, Delemer, Brigitte, Azahaf, Mustapha, Froguel, Philippe, Bonnefond, Amélie

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SDHx mutation and pituitary adenoma: can in vivo 1H-MR spectroscopy unravel the link? von Branzoli, Francesca, Salgues, Betty, Marjańska, Małgorzata, Laloi-Michelin, Marie, Herman, Philippe, Le Collen, Lauriane, Delemer, Brigitte, Riancho, Julien, Kuhn, Emmanuelle, Jublanc, Christel, Burnichon, Nelly, Amar, Laurence, Favier, Judith, Gimenez-Roqueplo, Anne-Paule, Buffet, Alexandre, Lussey-Lepoutre, Charlotte

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Population-Level Impact of COVID-19 on Thyroid Function Tests: Results From a Repeated Cross-Sectional Study von Berkebile, Gabriel, Barbé, Françoise, Malaplate, Catherine, Le Collen, Lauriane, Guéant, Jean-Louis, Klein, Marc, Oussalah, Abderrahim

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A large extended family with hyperparathyroidism-jaw tumor syndrome due to deletion of the third exon of CDC73: clinical and molecular features von Le Collen, Lauriane, Barraud, Sara, Braconnier, Antoine, Coppin, Lucie, Zachar, Dominique, Boulagnon, Camille, Deguelte, Sophie, Souchon, Pierre François, Spodenkiewicz, Marta, Poirsier, Céline, Aubert, Sébastien, Odou, Marie Françoise, Delemer, Brigitte

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Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis von Le Collen, Lauriane, Delemer, Brigitte, Spodenkiewicz, Marta, Cornillet Lefebvre, Pascale, Durand, Emmanuelle, Vaillant, Emmanuel, Badreddine, Alaa, Derhourhi, Mehdi, Mouhoub, Tarik Ait, Jouret, Guillaume, Juttet, Pauline, Souchon, Pierre François, Vaxillaire, Martine, Froguel, Philippe, Bonnefond, Amélie, Doco Fenzy, Martine

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Médecine de précision du diabète de type 2 et des obésités génétiques von Le Collen, Lauriane

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Towards the recognition of oligogenic forms of type 2 diabetes von Le Collen, Lauriane, Froguel, Philippe, Bonnefond, Amélie

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Monoallelic pathogenic variants in LEPR do not cause obesity von Delplanque, Jérôme, Le Collen, Lauriane, Loiselle, Hélène, Leloire, Audrey, Toussaint, Bénédicte, Vaillant, Emmanuel, Charpentier, Guillaume, Franc, Sylvia, Balkau, Beverley, Marre, Michel, Henriques, Emma, Buse Falay, Emmanuel, Derhourhi, Mehdi, Froguel, Philippe, Bonnefond, Amélie

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Patients' perspective on the medical pathway from first symptoms to diagnosis in genetic lipodystrophy von Mosbah, Héléna, Vatier, Camille, Andriss, Béatrice, Belalem, Inès, Delemer, Brigitte, Janmaat, Sonja, Jéru, Isabelle, Le Collen, Lauriane, Maiter, Dominique, Nobécourt, Estelle, Vantyghem, Marie-Christine, Vigouroux, Corinne, Dumas, Agnes

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Tatton-Brown-Rahman syndrome: A new multiple endocrine neoplasia syndrome with intellectual disability? von Le Collen, Lauriane, Charnay, Théo, Ly, Sang, Delemer, Brigitte, Lagarde, Arnaud, Ascone, Giuliana, Daly, Adrian F., Barlier, Anne, Romanet, Pauline

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Heterozygous pathogenic variants in POMC are not responsible for monogenic obesity: Implication for MC4R agonist use von Le Collen, Lauriane, Delemer, Brigitte, Poitou, Christine, Vaxillaire, Martine, Toussaint, Bénédicte, Dechaume, Aurélie, Badreddine, Alaa, Boissel, Mathilde, Derhourhi, Mehdi, Clément, Karine, Petit, Jean M., Mau-Them, Frédéric Tran, Bruel, Ange-Line, Thauvin-Robinet, Christel, Saveanu, Alexandru, Cherifi, Blandine Gatta, Le Beyec-Le Bihan, Johanne, Froguel, Philippe, Bonnefond, Amélie

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Multiple endocrine neoplasia type 1 caused by mosaic mutation: clinical follow-up and genetic counseling? von Coppin, Lucie, Giraud, Sophie, Pasmant, Eric, Lagarde, Arnaud, North, Marie-Odile, Le-Collen, Lauriane, Aubert, Valérie, Mougel, Grégory, Ladsous, Miriam, Louboutin, Alyzée, Brixi, Hedia, Haissaguerre, Magalie, Scheyer, Nicolas, Klein, Marc, Tabarin, Antoine, Delemer, Brigitte, Barlier, Anne, Odou, Marie-Françoise, Romanet, Pauline

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Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis von Le Collen, Lauriane, Delemer, Brigitte, Spodenkiewicz, Marta, Cornillet Lefebvre, Pascale, Durand, Emmanuelle, Vaillant, Emmanuel, Badreddine, Alaa, Derhourhi, Mehdi, Mouhoub, Tarik Ait, Jouret, Guillaume, Juttet, Pauline, Souchon, Pierre François, Vaxillaire, Martine, Froguel, Philippe, Bonnefond, Amélie, Doco Fenzy, Martine

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